Translational medicine in inborn errors of metabolism and other rare genetic diseases
Inborn errors of metabolism (IEM) are a large group of rare genetic diseases, including any condition in which the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Nevertheless many of them detected by standard biochemical test are not genetically solved. In addition, many of them lack a definitive therapy. In this context, our objectives, aligned with the worldwide aims in translational research in rare diseases, are addressed to improve the knowledge of IEM towards tailored treatments. First, our activity is aimed to the identification of new genes causing pathology using a combination of "omics" tools (genomic, transcriptomic and metabolomic technologies) and cellular biology techniques, in order to decipher the effect of altered genes and to identify novel pathological processes. Specifically, we are working on the identification and characterization of genetic defects involved in the process of glycosylation and protein transport (CDG syndrome), as well as in other diseases related to mitochondrial dysfunction or neurological disorders due to cerebral glucose transport deficiency, among others. We are also involved in the development of specific therapeutic strategies targeted to the mechanism of action of the mutations detected in neurometabolic diseases in the era of the personalized medicine. To that end, we are specifically involved in the development of therapies designed to rescue defects affecting protein folding, an extended mechanism in many IEM. For preclinical studies and for searching additional therapeutic targets based on pathophysiology studies we are working in the generation of disease cellular models obtained from reprogramming of patient derived fibroblasts and subsequent differentiation into hepatocytes, neurons or other tissues more relevant to the disease. In a later preclinical stage we intend also to use hepatic and cerebellar organoids to validate the potential drugs before testing in the adequate animal models.
This project is funded by the following grants: ISCIII (PI16/00573), CIBERER (ER18TRL746), Comunidad de Madrid (B2017/BMD3721) y Fundación Isabel Gemio in collaboration with La Obra Social de la Caixa (LCF/PR/PR16/11110018).
|Last name||Name||Laboratory||Ext.*||Professional category|
|Arribas Carreira||Laura||220||4596/7830||laura.arribas(at)cbm.csic.es||Titulado Sup. Actividades Tecn. y Profes. GP1|
|Gallego Martínez||Diana||220||4596/7830||Titulado Sup.de Actividades Técn. y Profes. GP1|
|Gámez Abascal||Alejandra||220||4596/7830||agamez(at)cbm.csic.es||Profesor Contratado Universidad, GA|
|Leal Pérez||Mª Fátima||220||4566/7830||fleal(at)cbm.csic.es||Contratado CIBER|
|Navarrete López de Soria||Rosa María||220||4566/7830||rnavarrete(at)cbm.csic.es||Contratado CIBER|
|Pérez González||Belén||220||4566/7830||bperez(at)cbm.csic.es||Profesor Titular Universidad, GA|
|Rodríguez Pombo||Pilar||220||4628||mprodriguez(at)cbm.csic.es||Profesor Titular Universidad, GA|
|Vilas Lagoa||Alicia||220||4560/7830||alicia.vilas(at)cbm.csic.es||Titulado Sup.de Actividades Técn. y Profes. GP1|
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